Correction

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sejak 2 tahun lalu, disertai rasa kaku sendi-sendi tungkai
kiri, should be kanan,
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Gambar 8. Foto lateral sendi lutut kanan
should be
Gambar 8. Foto lateral sendi lutut kiri
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skletorom, should be sklerotom,

Case Report

CHRONIC PAIN AND

DYSCREPANCY IN A 48
YEAR OLD MALE PATIENT
WITH MELORHEOSTOSIS
Eliana Muis
Faridin HP

Department of Internal Medicine

Faculty of Medicine
University of Hasanuddin

MELORHEOSTOSIS
Sclerosing mesodermal disease Derived from Greek:
Non-hereditary
melos limb
Benign
rhein to flow
Affects the skeleton and adjacent
osteon bone
soft tissue.
Mainly involves the lower
extremity, may also affect the
upper extremity, pelvic, costae,
and spine
Rarely involves the skull and
facial bones.

Characterized by a classic
radiographic feature of hyperostosis
periosteal on cortical of long bones
resembling dripping candle wax.

MELORHEOSTOSIS
Synonims = Candle wax diseases of the bones
Leris disease
Osteosis eburnisans monomelica.
A rare disease, first

described by Leri and

Joanny in 1922.

Several cases was

found incidentally by
radiographic.

DEMOGRAPHY OF
MELORHEOSTOSIS
About 400 cases have been
reported in the literature

Affects 1 in a million people

Male = female
No race predilection
In approximately 50% of cases
dysplasia that occurs in early childhood
is manifest by 20 years of age.
5

ETIOLOGY & PATHOGENESIS

Remains unclear.
Loss of mutation function in the LEMD3
gene (MAN1), a protein of the inner
nuclear membrane involved in bone
morphogenic has been observed.

CLINICAL MANIFESTATION
Chronic pain (neuralgia/arthralgia)
With periods of exacerbation & arrest
Intensity range from mild to severe

Limb stiffness
Restriction of joint movement
Deformity

CLINICAL MANIFESTATION
May involved:
segmental & unilateral hemimelic
1 bonemonostotic
1 limb monomelic
multiple bones polyostotic
Other disorder has been reported: Mesodermal
abnormalities such as hemangioma, nevi,
arteriovenosus malformation, glomus tumor.

CLINICAL MANIFESTATION
The osseus changes can cause functional morbidity.
Skin and subcutaneous tissue involvement:
Edema, hyperpigmentation, fibrosis, erythematous,
myositis, myosclerosis, muscular atrophy, joint
contracture that leads to deformity and limb
discrepancy which difficult to treat.
Treatment: Conservative and Operative,
multidisciplinary involving rheumatologist, medical
rehab and orthopaedic specialist.

CASE REPORT

Mr. AS, 48 y.o

From Kendari
Married, has 3 children
Early retired
Visited Rheumatology outpatient
ward at WS hosp. in Feb, 1st 2011
MR 455454

10

HISTORY TAKING
Chief complain: Pain on right knee, over 10 years, not
affected by the wheather, with periods of acutely
exacerbated by activity such as stair climbing and arrest.
He stated the pain felt like cramp and dull, initially. Then
turned into sharp and penetrating pain, radiated to the
ankle joint, upper thigh and the hip.
The pain gradually worsen since 2 years before,
accompanied by limb stiffness, leads to restriction of
movement on walking, hardly without any help.

11

HISTORY TAKING
Initially, he went for traditional medicine. As he began hardly
walk, he went to an internist who stated that he suffered
from osteoporosis and was given Voltaren 2x50 mg. Up till
recently, he has been consuming the medication, not
routinely, and without control.
He reported no fever, cough or shortness of breath.
No nausea or vomiting. Still, he has had loss of appetite
since 2 years before, result in decrease of BW about 5 kg.
No complained of urinating and defecation.

12

HISTORY TAKING
History of trauma 3 years before, which he fell from a
motorcycle. It caused a laceration and tender mass on his
right knee, which healed after he went for traditional
medication. There was also, lacerations on the right ankle.
No history of heart disease, HT, and diabetes.
No history of the same disorder in his family.

13

PHYSICAL
EXAMINATION

Moderately ill, well nourished, composmentis

BW 49 kg, BH 156 cm, BMI 20.13 kg/m2
BP 120/70 mmHg, P 78 x/min, RR 16 x/min, axillary temp
36.7oC
No abnormalities found on his head, neck, thorax, or
abdomen.

14

GALS EXAMINATION
Gait

Asymmetric
Waddling gait
Not able to turn quickly
Inspection
Mild scoliosis
from behind Paraspinal muscular normal and symmetric
Shoulder and gluteal muscular normal and symmetric
Iliacal height asymmetric (right higher than left)
No popliteal edema
Inspection
Cervical and lumbal lordosis normal
from lateral Mild thoracic kyphosis
Touch toes Spine and hip flexion not max (30o)
Palpation
Pain on lumbar area of supraspinatus, and right hip

15

GALS EXAMINATION
Arms
Arms behind head Glenohumeral, sternoclavicular and
acromioclavicular joints movement normal
Arms straight
Elbow extension maximal
Hands in front
No edema/deformity on wrist & fingers
Fingers extension maximal
Turn hands over Supination/pronation normal, palmar normal (no
edema, muscular wasting & erythematous)
Make a fist
Fist strength normal
Fingers on thumb Fine precision normal/agile
Palpation
Pain on metacarpal (-)

16

GALS EXAMINATION
Legs
Lying on a couch

Asymmetric, Edema on right limb

Discrepancy (+)
Left hip & knee flexion,internal hip rotation normal
Right hip flexion 15o, internal hip rotation
abnormal, right knee flexion 30o
Pain (-) at left hip, (+) at right
Pain (-) at left patella, (+) at right, efusion (-)
Pain (-) at left metatarsal, (+) at right
Popliteal angle right < left
A. Dorsalis pedis right & left (+) palpable
Right and left pedal normal

Spine
Head on shoulders Lateral flexion of cervical normal

17

Figure 1. Musculoskeletal examination (legs)

18

LAB EXAMINATION
Leukocyte

6900

/mm3

Hb
Platelet
ESR

13.4
275000
7 / 16

g/dl
/mm3
/mm3

RBS
Ureum
Creatinine
SGOT/SGPT

104
17
0.7
16 / 21

mg/dl
mg/dl
mg/dl
mg/dl

Na/K/Cl
ALP

142 / 3.8 / 105 mEq/ml

127
mg/dl

19

ECG
Sinus rhythm, heart rate 80
x/min

20

CLASSIC RADIOGRAPHIC
FEATURE

Figure 2. Chest Xray

Figure 11. Right & Left

pedis

21

Fig 3. Pelvic

Fig 4. Femur (AP & lateral

view)

22

Fig 5. Right & left popliteal

Fig 6. Right & left knee joint

(lateral)

23

Fig 7. Right knee joint

(lateral)

Fig 8. Left knee joint

(lateral)

24

Fig 9. Right & left

cruris (AP)

Fig10. Right & left

cruris (Lateral)

25

DIAGNOSI Melorheostosis
S
TREATMEN Meloxicam 15 mg/day
T
Calcium 2 tab/day
Informed & Educated
about progression, tx,
complication, &
prognosis
Referred to medical
rehab & orthopaedic
specialist.

26

DISCUSSION
Sclerotome - Murray & Mc Credie
(1979)
Melorheostosis lesion may correspond to a
sclerotome, which partially reflect the
monomelic tendency.

Hypothesi
s

Post zygotic mesenchymal mutation reflect

the sporadic bone dysplasia, also changes of
vascular, adjacent soft tissue & fair distribution
of gender.

Mosaicsm - Fryns (1995)

27

This patient has

monomelic manifestation
Monomelic
presentation
66-81%

Campbell et al
8 of 14 patients was
monomelic

Morris et al
81% of 131 patients
was monomelic

28

Classic radiography is
sufficient enough to
diagnose Melorheostosis
CT-scan and MRI are not
needed in the vast
majority of cases
Bone scintigraphy reveals
abnormal increased tracer
uptake in the bone and
soft tissue lesion

29

RADIOGRAPHY FEATURE
Pathognomonic:
Hyperostosis periosteal along the cortex of long
bones resembling melting wax flowing down the
side of a candle (the dripping candle wax sign)
Freyschmidt describe additional criterias:
1. Osteoma-like appearance with hyperostosis located either on the
outer or inner aspect of the affected bone
2. Osteopathia striata-like pattern, which showed long & dense
hyperostotic striations near the inner side of the cortex in 2 or more
bones
3. Myositis ossificans-like ossifications in the soft tissue in 2 or more
bones unilateral with/without intraosseous hyperostosis.

30

RADIOGRAPHY FEATURE

1. Osteoma-like appearance

2. Osteopathia striata-like
pattern

3. Myositis ossificans-like
pattern

31

In later stages of the disease, endosteal

hyperostosis may be seen, and this can partially
or completely obliterate the medullary cavity.
Even may be bone overgrowth.

This patient has cortical & endosteal hyperostosis

on right ilium, femur, patella tibia, fibula,
talocalcaneal, tarsal-metatarsal & phalanx
resembling later stages.

32

Although a relatively benign disease, the osseous changes

can be debilitating.
Some patients remain asymptomatic, until found incidentally
by radiopraphic examination.
The majority has chronic pain (neuralgia/arthralgia), limb
stiffness, and restriction of joint movement.
Severe cases result in discrepancy or soft tissue contracture.
Freyschmidt (2001) review of 23 cases, found that the
severity of symptoms correlates with the degree of
hyperostosis & number of bones involved, with normal lab.

33

This patient complain chronic

pain on the right knee, over 10
years, with periods of acutely
exacerbation and arres
History of trauma could
precipitated the disease
progression resulted in limb
discrepancy
Radiographic feature of cortical &
endosteal hyperostosis

Severe case
of
Melorheostos
is

Monomelic manifestation

34

LABORATORIUM
EXAMINATION
Lab result of this
Lab result of this
patient was normal.

There is no definitive lab

test for melorheostosis.
One case showed elevated serum
ALP, and this was thought to be
associated with an increase in
osteoblastic activity.

35

DIFFERENTIAL
DIAGNOSIS

Osteochondroma
Parosteal osteosarcoma
Osteoid osteoma
Other sclerosing bone dysplasia:
- Osteopoikilosis
- Osteopathia striata
- Myositis ossificans

36

Osteoid osteoma

Osteochondroma

Parosteal osteosarcoma

37

Myositis ossificans

Osteopoikilosis

Osteopathia striata

38

TREATMENT
Each patient of Melorheostosis is

unique

Majority treated symptomatic.

Surgery for the sole purpose of relieving pain is rarely
effective, unless that pain is a direct result of nerve
pressure or irritation.
The patient & family must have a clear understanding
of the risks and benefits involved and clear also
realistic expectation about the proposed procedures.
www.melorheostosis.org

39

TREATMENT OPTION
Konservati
ve
Pharmacolo
-

gy
Bisphosphonate
NSAID
Nifedipin

Nonpharmacology
- Physical
therapy
- Serial casting/splint
- Nerve block/symphatectomy

Operative
- Tendon shortening
- Fibrous & osseous
tissue excision
- Fasciotomy
- Capsulotomy
- Corrective osteotomy
- Bone debulking
- Amputation

40

A case report with severe pain

on the back and limb + ALP

Treated successfully with

Bisphosphonate infusion 6 days.

Female, 42 yo, with burning

pain on thigh that restricted her
daily activity

Treated effectively with Nifedipine, a

vasodilator, for 6 months.

Male, 21 yo, suffered from pain

& edema on 2nd-4th fingers on
left hand

Treated successfully with ibuprofen

800 mg.

Asian female, 44 yo, with severe

Melo that affects ipsilateral limb
for over 30 years

Mildly benefits after given

Pamidronate 30 mg/day for 3 days &
meloxicam 7.5 mg/day for 28 days.

41

This patients has been taking Voltaren 2x50 mg,

not routinely
Treated with Meloxicam 15 mg/day and given
also Calcium 2 tablet/day
Referred to ortho
specialist

Referred to rehab
specialist

42

PROGNOSIS
Despite of functional
morbidity, the prognosis
usually good.

In severe and later stages

of case, the prognosis is
dubia.

43

SUMMARY
48 yo
Suffered from a rare disease, MELORHEOSTOSIS
Chronic pain over 10
years on the right
knee with periods of
exacerbation & arrest.
PE: waddling gait,
edema on right side of
lower limb, restriction
of joint movement,
with lower limb
discrepancy.

Normal lab result.

Classic radiography
feature of sclerosing
bone dysplasia on
right ilium, femur,
patella, tibia, fibula,
talocalcaneal, tarsal,
metatarsal & phalanx
with monomelic
manifestation.

Symptomatic tx:
meloxicam 15 mg/day
& calcium 2 tab/day.
Informed & educated
about the progession,
comprehensive tx,
complication &
prognosis.
Referred to ortho &
med rehab.

Thank you!

The sclerotome forms cartilages and bones

46

Cartilage-forming cells migrate from

the sclerotome to the limb buds

47

Postzygotic mutations lead to mosaicism

48

Example of skin mosaicism

49

Types of bone cells

50

Endochondral bone formation

51

52

What does
LEMD3/MAN1 do?

Blocks the signal from Bone Morphogenic Proteins

(BMPs) and from TGF by binding to SMAD proteins
Preventing SMAD proteins from activating certain genes
involved in bone formation
Thus, loss of LEMD3/MAN1 function leads to excess of
bone formation.

53

What does
LEMD3/MAN1 do?

54